title: MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines.
abstract: Patients with infant acute myeloid leukemia (AML) who carry a t(7;12)(q36;p13) translocation have been reported to have a poor clinical outcome. MNX1-ETV6 fusion transcripts (previously HLXB9-ETV6) were rarely detected in AML patients having t(7;12)(q36;p13). A 23-month-old girl with acute megakaryoblastic leukemia (AMKL) exhibited chromosome abnormalities, including add(7)(q22), and del(12)(p12p13). Southern blot analysis of bone marrow cells showed an ETV6 gene rearrangement. Reverse transcriptase-polymerase chain reaction (RT-PCR) followed by sequence analysis revealed the presence of an MNX1-ETV6 fusion gene. The patient responded well to chemotherapy, achieved complete remission, and at writing had been in complete remission for 60 months. The MNX1 expression by RT-PCR was significantly more frequent in Epstein-Barr virus-transformed B-cell lines derived from normal adult lymphocytes than in leukemic cell lines. This represents a novel case of an AMKL patient with MNX1-ETV6 fusion transcripts who had a good prognosis.
authors.affiliation: Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Taketani
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Masahiro
authors.initials: M
authors.lastname: Sako
authors.forename: Takefumi
authors.initials: T
authors.lastname: Ishii
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D001402:B-Lymphocytes / Q000378:metabolism*; D045744:Cell Line, Tumor; D002869:Chromosome Aberrations; D005260:Female; D050939:Gene Fusion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007938:Leukemia / Q000235:genetics*; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D018398:Homeodomain Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C490003:MNX1 protein, human